What's in a Diagnosis?
In previous posts on my blog, I've mentioned Ehlers-Danlos Syndrome (EDS). I say that I have EDS but that's not entirely accurate. I'm still in the process of trying to get a firm diagnosis.
My first rheumatologist mentioned my hypermobility and possible related conditions but never followed through with that idea. It took being pregnant and the possibility of my having fatally dangerous heart symptoms for my doctors to pursue what condition I might actually have.
My geneticist has ruled out Marfan Syndrome and said at the time that I either have Ehlers-Danlos, Hypermobility Type or Stickler Syndrome.
Yesterday (at least it was when I started typing), however, the Ehlers-Danlos Society renamed the Ehlers-Danlos types and other hypermobility conditions and posted new diagnostic criteria for them.
This classification groups all hypermobility disorders under the heading Hypermobility Spectrum Disorder. It really does put all the conditions under an umbrella, like this cute image from the Hypermobility Syndromes Assiciation:
New diagnostic criteria for what is now called Hypermobile EDS (hEDS) kind of sends me back to the drawing board since I'm in diagnostic limbo right now.
Criterion 1: For hEDS, one needs a Beighton score of 5 or more. I'm not sure if I'm a 5 or a 3.
I can put my hands flat on the ground and my knees definitely hyperextend more than 10° but I'm not sure if my elbows hyperextend at least 10° or not. I can't do the hand signs. As I mentioned yesterday, though, my neck and shoulders are definitely more flexible than they should be, along with other joints
Criterion 2: This one is more complicated. It's got an A, B, and C, and one must meet the criteria for at least two features.
Feature A: "systemic manifestations." One needs 5. I have "unexplained striae" (stretch marks), "bilateral piezogenic papules of the heel" (though mine aren't painful), "dental crowding and high or narrow palate," and "arm span-to-height >/= 1.05." But that's only 4. I don't know if my skin is soft enough to qualify. I do know that my heart does not have the signs listed.
Feature B: Family History. Nope. (I'm a mutant. And not the X-Men kind, dang it!)
Feature C: "musculoskeletal complications." Yes. I have daily pain and have made for more than three months, and confirmed joint instability, so that's 3 when I only needed 1.
Criterion 3: This is about eliminating other possible diagnoses as hEDS is still a diagnosis of exclusion. As I said, we are still looking at the possibility of Stickler Syndrome.
It's interesting that they've taken out the ocular symptoms. That's the next part of my diagnostic journey - to see if the changes in my vision are more consistent with EDS or Stickler.
I kind of am sitting right on the line between meeting the diagnostic criteria for hEDS and not meeting it. If I don't meet the criteria, that means I likely have one of the other Hypermobility Spectrum Disorders.
I'm a little disappointed because being able to say "I have Ehlers-Danlos Syndrome" currently carries more weight than hypermobility syndrome does. If I do receive one of the HSD diagnoses, I then have to do more fighting to not get my symptoms brushed off as just my secondary Fibromyalgia, which has enough of its own problems.
How do the new diagnostic criteria affect you?
My first rheumatologist mentioned my hypermobility and possible related conditions but never followed through with that idea. It took being pregnant and the possibility of my having fatally dangerous heart symptoms for my doctors to pursue what condition I might actually have.
My geneticist has ruled out Marfan Syndrome and said at the time that I either have Ehlers-Danlos, Hypermobility Type or Stickler Syndrome.
Yesterday (at least it was when I started typing), however, the Ehlers-Danlos Society renamed the Ehlers-Danlos types and other hypermobility conditions and posted new diagnostic criteria for them.
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| Click the picture to go to their website for more info. |
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| Again, picture is link. |
New diagnostic criteria for what is now called Hypermobile EDS (hEDS) kind of sends me back to the drawing board since I'm in diagnostic limbo right now.
Criterion 1: For hEDS, one needs a Beighton score of 5 or more. I'm not sure if I'm a 5 or a 3.
I can put my hands flat on the ground and my knees definitely hyperextend more than 10° but I'm not sure if my elbows hyperextend at least 10° or not. I can't do the hand signs. As I mentioned yesterday, though, my neck and shoulders are definitely more flexible than they should be, along with other joints
Criterion 2: This one is more complicated. It's got an A, B, and C, and one must meet the criteria for at least two features.
Feature A: "systemic manifestations." One needs 5. I have "unexplained striae" (stretch marks), "bilateral piezogenic papules of the heel" (though mine aren't painful), "dental crowding and high or narrow palate," and "arm span-to-height >/= 1.05." But that's only 4. I don't know if my skin is soft enough to qualify. I do know that my heart does not have the signs listed.
Feature B: Family History. Nope. (I'm a mutant. And not the X-Men kind, dang it!)
Feature C: "musculoskeletal complications." Yes. I have daily pain and have made for more than three months, and confirmed joint instability, so that's 3 when I only needed 1.
Criterion 3: This is about eliminating other possible diagnoses as hEDS is still a diagnosis of exclusion. As I said, we are still looking at the possibility of Stickler Syndrome.
It's interesting that they've taken out the ocular symptoms. That's the next part of my diagnostic journey - to see if the changes in my vision are more consistent with EDS or Stickler.
I kind of am sitting right on the line between meeting the diagnostic criteria for hEDS and not meeting it. If I don't meet the criteria, that means I likely have one of the other Hypermobility Spectrum Disorders.
I'm a little disappointed because being able to say "I have Ehlers-Danlos Syndrome" currently carries more weight than hypermobility syndrome does. If I do receive one of the HSD diagnoses, I then have to do more fighting to not get my symptoms brushed off as just my secondary Fibromyalgia, which has enough of its own problems.
How do the new diagnostic criteria affect you?
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